Canonical Allele Identifier: CA390610702

Gene: CCDC88C

Linked Data

• dbSNP Id: rs7145583
• gnomAD v4: 14-91273529-A-C
• MyVariant Identifiers: chr14:g.91739873A>C (hg19) ; chr14:g.91273529A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91273529A>C , CM000676.2:g.91273529A>C	GRCh38
NC_000014.8:g.91739873A>C , CM000676.1:g.91739873A>C	GRCh37
NC_000014.7:g.90809626A>C	NCBI36
NG_033118.1:g.149316T>G
NG_033118.2:g.149316T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.5183T>G MANE Select	ENSP00000374507.6:p.Phe1728Cys
ENST00000331194.8:c.755T>G	ENSP00000330332.8:p.Phe252Cys
ENST00000334448.5:n.995T>G
ENST00000389857.10:c.5183T>G	ENSP00000374507.6:p.Phe1728Cys
ENST00000556726.5:c.1411T>G
NM_001080414.3:c.5183T>G	NP_001073883.2:p.Phe1728Cys
XM_011536796.1:c.5075T>G	XP_011535098.1:p.Phe1692Cys
XR_429316.2:n.5458T>G
XM_011536796.2:c.5075T>G	XP_011535098.1:p.Phe1692Cys
XM_017021336.1:c.2264T>G	XP_016876825.1:p.Phe755Cys
XR_429316.4:n.5456T>G
NM_001080414.4:c.5183T>G MANE Select	NP_001073883.2:p.Phe1728Cys